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rs745753810

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;G) 4 Dominant mutation associated with Familial Hypercholesterolemia
(G;G) 0 common/normal


Make rs745753810(A;A)
ReferenceGRCh38.p2 38.2/147
Chromosome19
Position11120408
GeneLDLR
is asnp
is mentioned by
dbSNPrs745753810
ClinGenrs745753810
ebirs745753810
HLIrs745753810
Exacrs745753810
Varsomers745753810
Maprs745753810
PheGenIrs745753810
hapmaprs745753810
1000 genomesrs745753810
hgdprs745753810
ensemblrs745753810
gopubmedrs745753810
geneviewrs745753810
scholarrs745753810
googlers745753810
pharmgkbrs745753810
gwascentralrs745753810
openSNPrs745753810
23andMers745753810
23andMe allrs745753810
SNP Nexus

SNPshotrs745753810
SNPdbers745753810
MSV3drs745753810
GWAS Ctlgrs745753810
Max Magnitude4
This variant in the LDLR gene is reported as meeting at least one of three criteria considered pathogenic for familial hypercholesterolemia and therefore significantly higher risk of coronary artery disease in a sequencing based study of 26,000 participants.[PMID 27050191]
ClinVar
Risk rs745753810(A;A) rs745753810(C;C)
Alt rs745753810(A;A) rs745753810(C;C)
Reference Rs745753810(G;G)
Significance Probable-Pathogenic
Disease Familial hypercholesterolemia
Variation info
Gene LDLR
CLNDBN Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11231084G>A; NC_000019.9:g.11231084G>C
CLNSRC LDLR @ LOVD
CLNACC RCV000237787.1, RCV000238171.1,